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HEPHL1 hephaestin like 1 [ Homo sapiens (human) ]

Gene ID: 341208, updated on 5-Jan-2022

Summary

Official Symbol
HEPHL1provided by HGNC
Official Full Name
hephaestin like 1provided by HGNC
Primary source
HGNC:HGNC:30477
See related
Ensembl:ENSG00000181333 MIM:618455
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZP; HJDD
Summary
Enables ferroxidase activity. Involved in cellular iron ion homeostasis. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in esophagus (RPKM 1.6), testis (RPKM 0.2) and 2 other tissues See more
Orthologs
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Genomic context

See HEPHL1 in Genome Data Viewer
Location:
11q21
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (94021354..94114208)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93754520..93847374)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060084 Neighboring gene hypoxanthine phosphoribosyltransferase 1 pseudogene 3 Neighboring gene PHB1 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 4215 Neighboring gene pannexin 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Pili torti-developmental delay-neurological abnormalities syndrome
MedGen: C1849811 OMIM: 261990 GeneReviews: Not available
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EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • DKFZp686F22190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
 
enables ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ferroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in copper ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within iron ion homeostasis IC
Inferred by Curator
more info
PubMed 
involved_in iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ferroxidase HEPHL1
Names
hephaestin-like protein 1
NP_001092142.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001098672.2NP_001092142.1  ferroxidase HEPHL1 precursor

    See identical proteins and their annotated locations for NP_001092142.1

    Status: VALIDATED

    Source sequence(s)
    AP002795, AP003966, BX641008, EG328157
    Consensus CDS
    CCDS44710.1
    UniProtKB/Swiss-Prot
    Q6MZM0
    Related
    ENSP00000313699.9, ENST00000315765.10
    Conserved Domains (5) summary
    cd04222
    Location:27209
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377573
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:576719
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:733909
    Cupredoxin; Cupredoxin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    94021354..94114208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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